A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14307543



Internal ID5387880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:128219445..128230488hg38UCSC Ensembl
Innerchr11:128219455..128230478hg38UCSC Ensembl
Outerchr11:128219435..128230498hg38UCSC Ensembl
chr11:128089340..128100383hg19UCSC Ensembl
Innerchr11:128089350..128100373hg19UCSC Ensembl
Outerchr11:128089330..128100393hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg3811044
hg1911044
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628042
Supporting Variants
SamplesNA18939
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14307543
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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